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Items: 1 to 20 of 690

1.

rs1485818701 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:108971435 (GRCh38)
    1:109514057 (GRCh37)
    Canonical SPDI:
    NC_000001.11:108971434:C:T
    Gene:
    WDR47 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.108971435C>T, NC_000001.10:g.109514057C>T, NM_014969.6:c.2758G>A, NM_014969.5:c.2758G>A, XM_006710460.5:c.2764G>A, XM_006710460.4:c.2764G>A, XM_006710460.3:c.2764G>A, XM_006710460.2:c.2764G>A, XM_006710460.1:c.2764G>A, XM_011541027.4:c.2782G>A, XM_011541027.3:c.2782G>A, XM_011541027.2:c.2782G>A, XM_011541027.1:c.2782G>A, XM_011541028.4:c.2761G>A, XM_011541028.3:c.2761G>A, XM_011541028.2:c.2761G>A, XM_011541028.1:c.2761G>A, XM_017000697.3:c.2755G>A, XM_017000697.2:c.2755G>A, XM_017000697.1:c.2755G>A, XM_011541029.3:c.2785G>A, XM_011541029.2:c.2785G>A, XM_011541029.1:c.2785G>A, XM_017000696.3:c.2776G>A, XM_017000696.2:c.2776G>A, XM_017000696.1:c.2776G>A, NM_001142550.2:c.2779G>A, NM_001142550.1:c.2779G>A, NM_001142551.2:c.2755G>A, NM_001142551.1:c.2755G>A, XM_024454177.2:c.2785G>A, XM_024454177.1:c.2785G>A, XM_011541030.2:c.2764G>A, XM_011541030.1:c.2764G>A, XM_011541031.2:c.2485G>A, XM_011541031.1:c.2485G>A, XM_047449499.1:c.2785G>A, XM_047449501.1:c.2785G>A, XM_047449522.1:c.2758G>A, NP_055784.3:p.Gly920Arg, XP_006710523.1:p.Gly922Arg, XP_011539329.1:p.Gly928Arg, XP_011539330.1:p.Gly921Arg, XP_016856186.1:p.Gly919Arg, XP_011539331.1:p.Gly929Arg, XP_016856185.1:p.Gly926Arg, NP_001136022.1:p.Gly927Arg, NP_001136023.1:p.Gly919Arg, XP_024309945.1:p.Gly929Arg, XP_011539332.1:p.Gly922Arg, XP_011539333.1:p.Gly829Arg, XP_047305455.1:p.Gly929Arg, XP_047305457.1:p.Gly929Arg, XP_047305478.1:p.Gly920Arg

    2.

    rs1484733787 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      1:109011563 (GRCh38)
      1:109554185 (GRCh37)
      Canonical SPDI:
      NC_000001.11:109011562:T:A
      Gene:
      WDR47 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      NC_000001.11:g.109011563T>A, NC_000001.10:g.109554185T>A, NM_014969.6:c.483A>T, NM_014969.5:c.483A>T, XM_006710460.5:c.483A>T, XM_006710460.4:c.483A>T, XM_006710460.3:c.483A>T, XM_006710460.2:c.483A>T, XM_006710460.1:c.483A>T, XM_011541027.4:c.504A>T, XM_011541027.3:c.504A>T, XM_011541027.2:c.504A>T, XM_011541027.1:c.504A>T, XM_011541028.4:c.483A>T, XM_011541028.3:c.483A>T, XM_011541028.2:c.483A>T, XM_011541028.1:c.483A>T, XM_017000697.3:c.483A>T, XM_017000697.2:c.483A>T, XM_017000697.1:c.483A>T, XM_011541029.3:c.504A>T, XM_011541029.2:c.504A>T, XM_011541029.1:c.504A>T, XM_017000696.3:c.504A>T, XM_017000696.2:c.504A>T, XM_017000696.1:c.504A>T, NM_001142550.2:c.504A>T, NM_001142550.1:c.504A>T, NM_001142551.2:c.483A>T, NM_001142551.1:c.483A>T, XM_024454177.2:c.504A>T, XM_024454177.1:c.504A>T, XM_011541030.2:c.483A>T, XM_011541030.1:c.483A>T, XM_011541031.2:c.204A>T, XM_011541031.1:c.204A>T, XM_047449499.1:c.504A>T, XM_047449501.1:c.504A>T, XM_047449522.1:c.483A>T

      3.

      rs1483918911 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        1:109011042 (GRCh38)
        1:109553664 (GRCh37)
        Canonical SPDI:
        NC_000001.11:109011041:C:G
        Gene:
        WDR47 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000001.11:g.109011042C>G, NC_000001.10:g.109553664C>G, NM_014969.6:c.1004G>C, NM_014969.5:c.1004G>C, XM_006710460.5:c.1004G>C, XM_006710460.4:c.1004G>C, XM_006710460.3:c.1004G>C, XM_006710460.2:c.1004G>C, XM_006710460.1:c.1004G>C, XM_011541027.4:c.1025G>C, XM_011541027.3:c.1025G>C, XM_011541027.2:c.1025G>C, XM_011541027.1:c.1025G>C, XM_011541028.4:c.1004G>C, XM_011541028.3:c.1004G>C, XM_011541028.2:c.1004G>C, XM_011541028.1:c.1004G>C, XM_017000697.3:c.1004G>C, XM_017000697.2:c.1004G>C, XM_017000697.1:c.1004G>C, XM_011541029.3:c.1025G>C, XM_011541029.2:c.1025G>C, XM_011541029.1:c.1025G>C, XM_017000696.3:c.1025G>C, XM_017000696.2:c.1025G>C, XM_017000696.1:c.1025G>C, NM_001142550.2:c.1025G>C, NM_001142550.1:c.1025G>C, NM_001142551.2:c.1004G>C, NM_001142551.1:c.1004G>C, XM_024454177.2:c.1025G>C, XM_024454177.1:c.1025G>C, XM_011541030.2:c.1004G>C, XM_011541030.1:c.1004G>C, XM_011541031.2:c.725G>C, XM_011541031.1:c.725G>C, XM_047449499.1:c.1025G>C, XM_047449501.1:c.1025G>C, XM_047449522.1:c.1004G>C, NP_055784.3:p.Gly335Ala, XP_006710523.1:p.Gly335Ala, XP_011539329.1:p.Gly342Ala, XP_011539330.1:p.Gly335Ala, XP_016856186.1:p.Gly335Ala, XP_011539331.1:p.Gly342Ala, XP_016856185.1:p.Gly342Ala, NP_001136022.1:p.Gly342Ala, NP_001136023.1:p.Gly335Ala, XP_024309945.1:p.Gly342Ala, XP_011539332.1:p.Gly335Ala, XP_011539333.1:p.Gly242Ala, XP_047305455.1:p.Gly342Ala, XP_047305457.1:p.Gly342Ala, XP_047305478.1:p.Gly335Ala

        4.

        rs1482679088 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:108983325 (GRCh38)
          1:109525947 (GRCh37)
          Canonical SPDI:
          NC_000001.11:108983324:G:A
          Gene:
          WDR47 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000026/7 (TOPMED)
          A=0.000035/1 (TOMMO)
          HGVS:
          NC_000001.11:g.108983325G>A, NC_000001.10:g.109525947G>A, NM_014969.6:c.2055C>T, NM_014969.5:c.2055C>T, XM_006710460.5:c.2055C>T, XM_006710460.4:c.2055C>T, XM_006710460.3:c.2055C>T, XM_006710460.2:c.2055C>T, XM_006710460.1:c.2055C>T, XM_011541027.4:c.2073C>T, XM_011541027.3:c.2073C>T, XM_011541027.2:c.2073C>T, XM_011541027.1:c.2073C>T, XM_011541028.4:c.2052C>T, XM_011541028.3:c.2052C>T, XM_011541028.2:c.2052C>T, XM_011541028.1:c.2052C>T, XM_017000697.3:c.2052C>T, XM_017000697.2:c.2052C>T, XM_017000697.1:c.2052C>T, XM_011541029.3:c.2076C>T, XM_011541029.2:c.2076C>T, XM_011541029.1:c.2076C>T, XM_017000696.3:c.2073C>T, XM_017000696.2:c.2073C>T, XM_017000696.1:c.2073C>T, NM_001142550.2:c.2076C>T, NM_001142550.1:c.2076C>T, NM_001142551.2:c.2052C>T, NM_001142551.1:c.2052C>T, XM_024454177.2:c.2076C>T, XM_024454177.1:c.2076C>T, XM_011541030.2:c.2055C>T, XM_011541030.1:c.2055C>T, XM_011541031.2:c.1776C>T, XM_011541031.1:c.1776C>T, XM_047449499.1:c.2076C>T, XM_047449501.1:c.2076C>T, XM_047449522.1:c.2055C>T

          5.

          rs1482260290 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAG>- [Show Flanks]
            Chromosome:
            1:109011031 (GRCh38)
            1:109553653 (GRCh37)
            Canonical SPDI:
            NC_000001.11:109011028:AGAAG:AG
            Gene:
            WDR47 (Varview)
            Functional Consequence:
            inframe_deletion,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AG=0./0 (ALFA)
            -=0.000004/1 (GnomAD_exomes)
            -=0.000008/2 (TOPMED)
            HGVS:
            NC_000001.11:g.109011031_109011033del, NC_000001.10:g.109553653_109553655del, NM_014969.6:c.1015_1017del, NM_014969.5:c.1015_1017del, XM_006710460.5:c.1015_1017del, XM_006710460.4:c.1015_1017del, XM_006710460.3:c.1015_1017del, XM_006710460.2:c.1015_1017del, XM_006710460.1:c.1015_1017del, XM_011541027.4:c.1036_1038del, XM_011541027.3:c.1036_1038del, XM_011541027.2:c.1036_1038del, XM_011541027.1:c.1036_1038del, XM_011541028.4:c.1015_1017del, XM_011541028.3:c.1015_1017del, XM_011541028.2:c.1015_1017del, XM_011541028.1:c.1015_1017del, XM_017000697.3:c.1015_1017del, XM_017000697.2:c.1015_1017del, XM_017000697.1:c.1015_1017del, XM_011541029.3:c.1036_1038del, XM_011541029.2:c.1036_1038del, XM_011541029.1:c.1036_1038del, XM_017000696.3:c.1036_1038del, XM_017000696.2:c.1036_1038del, XM_017000696.1:c.1036_1038del, NM_001142550.2:c.1036_1038del, NM_001142550.1:c.1036_1038del, NM_001142551.2:c.1015_1017del, NM_001142551.1:c.1015_1017del, XM_024454177.2:c.1036_1038del, XM_024454177.1:c.1036_1038del, XM_011541030.2:c.1015_1017del, XM_011541030.1:c.1015_1017del, XM_011541031.2:c.736_738del, XM_011541031.1:c.736_738del, XM_047449499.1:c.1036_1038del, XM_047449501.1:c.1036_1038del, XM_047449522.1:c.1015_1017del, NP_055784.3:p.Ser339del, XP_006710523.1:p.Ser339del, XP_011539329.1:p.Ser346del, XP_011539330.1:p.Ser339del, XP_016856186.1:p.Ser339del, XP_011539331.1:p.Ser346del, XP_016856185.1:p.Ser346del, NP_001136022.1:p.Ser346del, NP_001136023.1:p.Ser339del, XP_024309945.1:p.Ser346del, XP_011539332.1:p.Ser339del, XP_011539333.1:p.Ser246del, XP_047305455.1:p.Ser346del, XP_047305457.1:p.Ser346del, XP_047305478.1:p.Ser339del

            6.

            rs1481192544 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              1:108986679 (GRCh38)
              1:109529301 (GRCh37)
              Canonical SPDI:
              NC_000001.11:108986678:T:A
              Gene:
              WDR47 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000009/1 (GnomAD)
              HGVS:
              NC_000001.11:g.108986679T>A, NC_000001.10:g.109529301T>A, NM_014969.6:c.1772A>T, NM_014969.5:c.1772A>T, XM_006710460.5:c.1772A>T, XM_006710460.4:c.1772A>T, XM_006710460.3:c.1772A>T, XM_006710460.2:c.1772A>T, XM_006710460.1:c.1772A>T, XM_011541027.4:c.1790A>T, XM_011541027.3:c.1790A>T, XM_011541027.2:c.1790A>T, XM_011541027.1:c.1790A>T, XM_011541028.4:c.1769A>T, XM_011541028.3:c.1769A>T, XM_011541028.2:c.1769A>T, XM_011541028.1:c.1769A>T, XM_017000697.3:c.1769A>T, XM_017000697.2:c.1769A>T, XM_017000697.1:c.1769A>T, XM_011541029.3:c.1793A>T, XM_011541029.2:c.1793A>T, XM_011541029.1:c.1793A>T, XM_017000696.3:c.1790A>T, XM_017000696.2:c.1790A>T, XM_017000696.1:c.1790A>T, NM_001142550.2:c.1793A>T, NM_001142550.1:c.1793A>T, NM_001142551.2:c.1769A>T, NM_001142551.1:c.1769A>T, XM_024454177.2:c.1793A>T, XM_024454177.1:c.1793A>T, XM_011541030.2:c.1772A>T, XM_011541030.1:c.1772A>T, XM_011541031.2:c.1493A>T, XM_011541031.1:c.1493A>T, XM_047449499.1:c.1793A>T, XM_047449501.1:c.1793A>T, XM_047449522.1:c.1772A>T, NP_055784.3:p.Asp591Val, XP_006710523.1:p.Asp591Val, XP_011539329.1:p.Asp597Val, XP_011539330.1:p.Asp590Val, XP_016856186.1:p.Asp590Val, XP_011539331.1:p.Asp598Val, XP_016856185.1:p.Asp597Val, NP_001136022.1:p.Asp598Val, NP_001136023.1:p.Asp590Val, XP_024309945.1:p.Asp598Val, XP_011539332.1:p.Asp591Val, XP_011539333.1:p.Asp498Val, XP_047305455.1:p.Asp598Val, XP_047305457.1:p.Asp598Val, XP_047305478.1:p.Asp591Val

              7.

              rs1480451669 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                1:109011134 (GRCh38)
                1:109553756 (GRCh37)
                Canonical SPDI:
                NC_000001.11:109011133:T:C,NC_000001.11:109011133:T:G
                Gene:
                WDR47 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000001.11:g.109011134T>C, NC_000001.11:g.109011134T>G, NC_000001.10:g.109553756T>C, NC_000001.10:g.109553756T>G, NM_014969.6:c.912A>G, NM_014969.6:c.912A>C, NM_014969.5:c.912A>G, NM_014969.5:c.912A>C, XM_006710460.5:c.912A>G, XM_006710460.5:c.912A>C, XM_006710460.4:c.912A>G, XM_006710460.4:c.912A>C, XM_006710460.3:c.912A>G, XM_006710460.3:c.912A>C, XM_006710460.2:c.912A>G, XM_006710460.2:c.912A>C, XM_006710460.1:c.912A>G, XM_006710460.1:c.912A>C, XM_011541027.4:c.933A>G, XM_011541027.4:c.933A>C, XM_011541027.3:c.933A>G, XM_011541027.3:c.933A>C, XM_011541027.2:c.933A>G, XM_011541027.2:c.933A>C, XM_011541027.1:c.933A>G, XM_011541027.1:c.933A>C, XM_011541028.4:c.912A>G, XM_011541028.4:c.912A>C, XM_011541028.3:c.912A>G, XM_011541028.3:c.912A>C, XM_011541028.2:c.912A>G, XM_011541028.2:c.912A>C, XM_011541028.1:c.912A>G, XM_011541028.1:c.912A>C, XM_017000697.3:c.912A>G, XM_017000697.3:c.912A>C, XM_017000697.2:c.912A>G, XM_017000697.2:c.912A>C, XM_017000697.1:c.912A>G, XM_017000697.1:c.912A>C, XM_011541029.3:c.933A>G, XM_011541029.3:c.933A>C, XM_011541029.2:c.933A>G, XM_011541029.2:c.933A>C, XM_011541029.1:c.933A>G, XM_011541029.1:c.933A>C, XM_017000696.3:c.933A>G, XM_017000696.3:c.933A>C, XM_017000696.2:c.933A>G, XM_017000696.2:c.933A>C, XM_017000696.1:c.933A>G, XM_017000696.1:c.933A>C, NM_001142550.2:c.933A>G, NM_001142550.2:c.933A>C, NM_001142550.1:c.933A>G, NM_001142550.1:c.933A>C, NM_001142551.2:c.912A>G, NM_001142551.2:c.912A>C, NM_001142551.1:c.912A>G, NM_001142551.1:c.912A>C, XM_024454177.2:c.933A>G, XM_024454177.2:c.933A>C, XM_024454177.1:c.933A>G, XM_024454177.1:c.933A>C, XM_011541030.2:c.912A>G, XM_011541030.2:c.912A>C, XM_011541030.1:c.912A>G, XM_011541030.1:c.912A>C, XM_011541031.2:c.633A>G, XM_011541031.2:c.633A>C, XM_011541031.1:c.633A>G, XM_011541031.1:c.633A>C, XM_047449499.1:c.933A>G, XM_047449499.1:c.933A>C, XM_047449501.1:c.933A>G, XM_047449501.1:c.933A>C, XM_047449522.1:c.912A>G, XM_047449522.1:c.912A>C

                8.

                rs1480066112 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:108974564 (GRCh38)
                  1:109517186 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:108974563:A:G
                  Gene:
                  WDR47 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.108974564A>G, NC_000001.10:g.109517186A>G, NM_014969.6:c.2592T>C, NM_014969.5:c.2592T>C, XM_006710460.5:c.2598T>C, XM_006710460.4:c.2598T>C, XM_006710460.3:c.2598T>C, XM_006710460.2:c.2598T>C, XM_006710460.1:c.2598T>C, XM_011541027.4:c.2616T>C, XM_011541027.3:c.2616T>C, XM_011541027.2:c.2616T>C, XM_011541027.1:c.2616T>C, XM_011541028.4:c.2595T>C, XM_011541028.3:c.2595T>C, XM_011541028.2:c.2595T>C, XM_011541028.1:c.2595T>C, XM_017000697.3:c.2589T>C, XM_017000697.2:c.2589T>C, XM_017000697.1:c.2589T>C, XM_011541029.3:c.2619T>C, XM_011541029.2:c.2619T>C, XM_011541029.1:c.2619T>C, XM_017000696.3:c.2610T>C, XM_017000696.2:c.2610T>C, XM_017000696.1:c.2610T>C, NM_001142550.2:c.2613T>C, NM_001142550.1:c.2613T>C, NM_001142551.2:c.2589T>C, NM_001142551.1:c.2589T>C, XM_024454177.2:c.2619T>C, XM_024454177.1:c.2619T>C, XM_011541030.2:c.2598T>C, XM_011541030.1:c.2598T>C, XM_011541031.2:c.2319T>C, XM_011541031.1:c.2319T>C, XM_047449499.1:c.2619T>C, XM_047449501.1:c.2619T>C, XM_047449522.1:c.2592T>C

                  9.

                  rs1479814574 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:108986576 (GRCh38)
                    1:109529198 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:108986575:A:G
                    Gene:
                    WDR47 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000071/1 (ALFA)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000001.11:g.108986576A>G, NC_000001.10:g.109529198A>G, NM_014969.6:c.1875T>C, NM_014969.5:c.1875T>C, XM_006710460.5:c.1875T>C, XM_006710460.4:c.1875T>C, XM_006710460.3:c.1875T>C, XM_006710460.2:c.1875T>C, XM_006710460.1:c.1875T>C, XM_011541027.4:c.1893T>C, XM_011541027.3:c.1893T>C, XM_011541027.2:c.1893T>C, XM_011541027.1:c.1893T>C, XM_011541028.4:c.1872T>C, XM_011541028.3:c.1872T>C, XM_011541028.2:c.1872T>C, XM_011541028.1:c.1872T>C, XM_017000697.3:c.1872T>C, XM_017000697.2:c.1872T>C, XM_017000697.1:c.1872T>C, XM_011541029.3:c.1896T>C, XM_011541029.2:c.1896T>C, XM_011541029.1:c.1896T>C, XM_017000696.3:c.1893T>C, XM_017000696.2:c.1893T>C, XM_017000696.1:c.1893T>C, NM_001142550.2:c.1896T>C, NM_001142550.1:c.1896T>C, NM_001142551.2:c.1872T>C, NM_001142551.1:c.1872T>C, XM_024454177.2:c.1896T>C, XM_024454177.1:c.1896T>C, XM_011541030.2:c.1875T>C, XM_011541030.1:c.1875T>C, XM_011541031.2:c.1596T>C, XM_011541031.1:c.1596T>C, XM_047449499.1:c.1896T>C, XM_047449501.1:c.1896T>C, XM_047449522.1:c.1875T>C

                    10.

                    rs1478797704 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      1:109004612 (GRCh38)
                      1:109547234 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:109004611:C:A,NC_000001.11:109004611:C:T
                      Gene:
                      WDR47 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000001.11:g.109004612C>A, NC_000001.11:g.109004612C>T, NC_000001.10:g.109547234C>A, NC_000001.10:g.109547234C>T, NM_014969.6:c.1237G>T, NM_014969.6:c.1237G>A, NM_014969.5:c.1237G>T, NM_014969.5:c.1237G>A, XM_006710460.5:c.1237G>T, XM_006710460.5:c.1237G>A, XM_006710460.4:c.1237G>T, XM_006710460.4:c.1237G>A, XM_006710460.3:c.1237G>T, XM_006710460.3:c.1237G>A, XM_006710460.2:c.1237G>T, XM_006710460.2:c.1237G>A, XM_006710460.1:c.1237G>T, XM_006710460.1:c.1237G>A, XM_011541027.4:c.1255G>T, XM_011541027.4:c.1255G>A, XM_011541027.3:c.1255G>T, XM_011541027.3:c.1255G>A, XM_011541027.2:c.1255G>T, XM_011541027.2:c.1255G>A, XM_011541027.1:c.1255G>T, XM_011541027.1:c.1255G>A, XM_011541028.4:c.1234G>T, XM_011541028.4:c.1234G>A, XM_011541028.3:c.1234G>T, XM_011541028.3:c.1234G>A, XM_011541028.2:c.1234G>T, XM_011541028.2:c.1234G>A, XM_011541028.1:c.1234G>T, XM_011541028.1:c.1234G>A, XM_017000697.3:c.1234G>T, XM_017000697.3:c.1234G>A, XM_017000697.2:c.1234G>T, XM_017000697.2:c.1234G>A, XM_017000697.1:c.1234G>T, XM_017000697.1:c.1234G>A, XM_011541029.3:c.1258G>T, XM_011541029.3:c.1258G>A, XM_011541029.2:c.1258G>T, XM_011541029.2:c.1258G>A, XM_011541029.1:c.1258G>T, XM_011541029.1:c.1258G>A, XM_017000696.3:c.1255G>T, XM_017000696.3:c.1255G>A, XM_017000696.2:c.1255G>T, XM_017000696.2:c.1255G>A, XM_017000696.1:c.1255G>T, XM_017000696.1:c.1255G>A, NM_001142550.2:c.1258G>T, NM_001142550.2:c.1258G>A, NM_001142550.1:c.1258G>T, NM_001142550.1:c.1258G>A, NM_001142551.2:c.1234G>T, NM_001142551.2:c.1234G>A, NM_001142551.1:c.1234G>T, NM_001142551.1:c.1234G>A, XM_024454177.2:c.1258G>T, XM_024454177.2:c.1258G>A, XM_024454177.1:c.1258G>T, XM_024454177.1:c.1258G>A, XM_011541030.2:c.1237G>T, XM_011541030.2:c.1237G>A, XM_011541030.1:c.1237G>T, XM_011541030.1:c.1237G>A, XM_011541031.2:c.958G>T, XM_011541031.2:c.958G>A, XM_011541031.1:c.958G>T, XM_011541031.1:c.958G>A, XM_047449499.1:c.1258G>T, XM_047449499.1:c.1258G>A, XM_047449501.1:c.1258G>T, XM_047449501.1:c.1258G>A, XM_047449522.1:c.1237G>T, XM_047449522.1:c.1237G>A, NP_055784.3:p.Ala413Ser, NP_055784.3:p.Ala413Thr, XP_006710523.1:p.Ala413Ser, XP_006710523.1:p.Ala413Thr, XP_011539329.1:p.Ala419Ser, XP_011539329.1:p.Ala419Thr, XP_011539330.1:p.Ala412Ser, XP_011539330.1:p.Ala412Thr, XP_016856186.1:p.Ala412Ser, XP_016856186.1:p.Ala412Thr, XP_011539331.1:p.Ala420Ser, XP_011539331.1:p.Ala420Thr, XP_016856185.1:p.Ala419Ser, XP_016856185.1:p.Ala419Thr, NP_001136022.1:p.Ala420Ser, NP_001136022.1:p.Ala420Thr, NP_001136023.1:p.Ala412Ser, NP_001136023.1:p.Ala412Thr, XP_024309945.1:p.Ala420Ser, XP_024309945.1:p.Ala420Thr, XP_011539332.1:p.Ala413Ser, XP_011539332.1:p.Ala413Thr, XP_011539333.1:p.Ala320Ser, XP_011539333.1:p.Ala320Thr, XP_047305455.1:p.Ala420Ser, XP_047305455.1:p.Ala420Thr, XP_047305457.1:p.Ala420Ser, XP_047305457.1:p.Ala420Thr, XP_047305478.1:p.Ala413Ser, XP_047305478.1:p.Ala413Thr

                      11.

                      rs1478725662 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        1:109011623 (GRCh38)
                        1:109554245 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:109011622:C:G
                        Gene:
                        WDR47 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        HGVS:
                        NC_000001.11:g.109011623C>G, NC_000001.10:g.109554245C>G, NM_014969.6:c.423G>C, NM_014969.5:c.423G>C, XM_006710460.5:c.423G>C, XM_006710460.4:c.423G>C, XM_006710460.3:c.423G>C, XM_006710460.2:c.423G>C, XM_006710460.1:c.423G>C, XM_011541027.4:c.444G>C, XM_011541027.3:c.444G>C, XM_011541027.2:c.444G>C, XM_011541027.1:c.444G>C, XM_011541028.4:c.423G>C, XM_011541028.3:c.423G>C, XM_011541028.2:c.423G>C, XM_011541028.1:c.423G>C, XM_017000697.3:c.423G>C, XM_017000697.2:c.423G>C, XM_017000697.1:c.423G>C, XM_011541029.3:c.444G>C, XM_011541029.2:c.444G>C, XM_011541029.1:c.444G>C, XM_017000696.3:c.444G>C, XM_017000696.2:c.444G>C, XM_017000696.1:c.444G>C, NM_001142550.2:c.444G>C, NM_001142550.1:c.444G>C, NM_001142551.2:c.423G>C, NM_001142551.1:c.423G>C, XM_024454177.2:c.444G>C, XM_024454177.1:c.444G>C, XM_011541030.2:c.423G>C, XM_011541030.1:c.423G>C, XM_011541031.2:c.144G>C, XM_011541031.1:c.144G>C, XM_047449499.1:c.444G>C, XM_047449501.1:c.444G>C, XM_047449522.1:c.423G>C, NP_055784.3:p.Leu141Phe, XP_006710523.1:p.Leu141Phe, XP_011539329.1:p.Leu148Phe, XP_011539330.1:p.Leu141Phe, XP_016856186.1:p.Leu141Phe, XP_011539331.1:p.Leu148Phe, XP_016856185.1:p.Leu148Phe, NP_001136022.1:p.Leu148Phe, NP_001136023.1:p.Leu141Phe, XP_024309945.1:p.Leu148Phe, XP_011539332.1:p.Leu141Phe, XP_011539333.1:p.Leu48Phe, XP_047305455.1:p.Leu148Phe, XP_047305457.1:p.Leu148Phe, XP_047305478.1:p.Leu141Phe

                        12.

                        rs1477974368 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          1:109010988 (GRCh38)
                          1:109553610 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:109010987:A:T
                          Gene:
                          WDR47 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000001.11:g.109010988A>T, NC_000001.10:g.109553610A>T, NM_014969.6:c.1058T>A, NM_014969.5:c.1058T>A, XM_006710460.5:c.1058T>A, XM_006710460.4:c.1058T>A, XM_006710460.3:c.1058T>A, XM_006710460.2:c.1058T>A, XM_006710460.1:c.1058T>A, XM_011541027.4:c.1079T>A, XM_011541027.3:c.1079T>A, XM_011541027.2:c.1079T>A, XM_011541027.1:c.1079T>A, XM_011541028.4:c.1058T>A, XM_011541028.3:c.1058T>A, XM_011541028.2:c.1058T>A, XM_011541028.1:c.1058T>A, XM_017000697.3:c.1058T>A, XM_017000697.2:c.1058T>A, XM_017000697.1:c.1058T>A, XM_011541029.3:c.1079T>A, XM_011541029.2:c.1079T>A, XM_011541029.1:c.1079T>A, XM_017000696.3:c.1079T>A, XM_017000696.2:c.1079T>A, XM_017000696.1:c.1079T>A, NM_001142550.2:c.1079T>A, NM_001142550.1:c.1079T>A, NM_001142551.2:c.1058T>A, NM_001142551.1:c.1058T>A, XM_024454177.2:c.1079T>A, XM_024454177.1:c.1079T>A, XM_011541030.2:c.1058T>A, XM_011541030.1:c.1058T>A, XM_011541031.2:c.779T>A, XM_011541031.1:c.779T>A, XM_047449499.1:c.1079T>A, XM_047449501.1:c.1079T>A, XM_047449522.1:c.1058T>A, NP_055784.3:p.Val353Glu, XP_006710523.1:p.Val353Glu, XP_011539329.1:p.Val360Glu, XP_011539330.1:p.Val353Glu, XP_016856186.1:p.Val353Glu, XP_011539331.1:p.Val360Glu, XP_016856185.1:p.Val360Glu, NP_001136022.1:p.Val360Glu, NP_001136023.1:p.Val353Glu, XP_024309945.1:p.Val360Glu, XP_011539332.1:p.Val353Glu, XP_011539333.1:p.Val260Glu, XP_047305455.1:p.Val360Glu, XP_047305457.1:p.Val360Glu, XP_047305478.1:p.Val353Glu

                          13.

                          rs1475061638 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:109011362 (GRCh38)
                            1:109553984 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:109011361:G:A
                            Gene:
                            WDR47 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.109011362G>A, NC_000001.10:g.109553984G>A, NM_014969.6:c.684C>T, NM_014969.5:c.684C>T, XM_006710460.5:c.684C>T, XM_006710460.4:c.684C>T, XM_006710460.3:c.684C>T, XM_006710460.2:c.684C>T, XM_006710460.1:c.684C>T, XM_011541027.4:c.705C>T, XM_011541027.3:c.705C>T, XM_011541027.2:c.705C>T, XM_011541027.1:c.705C>T, XM_011541028.4:c.684C>T, XM_011541028.3:c.684C>T, XM_011541028.2:c.684C>T, XM_011541028.1:c.684C>T, XM_017000697.3:c.684C>T, XM_017000697.2:c.684C>T, XM_017000697.1:c.684C>T, XM_011541029.3:c.705C>T, XM_011541029.2:c.705C>T, XM_011541029.1:c.705C>T, XM_017000696.3:c.705C>T, XM_017000696.2:c.705C>T, XM_017000696.1:c.705C>T, NM_001142550.2:c.705C>T, NM_001142550.1:c.705C>T, NM_001142551.2:c.684C>T, NM_001142551.1:c.684C>T, XM_024454177.2:c.705C>T, XM_024454177.1:c.705C>T, XM_011541030.2:c.684C>T, XM_011541030.1:c.684C>T, XM_011541031.2:c.405C>T, XM_011541031.1:c.405C>T, XM_047449499.1:c.705C>T, XM_047449501.1:c.705C>T, XM_047449522.1:c.684C>T

                            14.

                            rs1474876677 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:108982626 (GRCh38)
                              1:109525248 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:108982625:G:A
                              Gene:
                              WDR47 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.108982626G>A, NC_000001.10:g.109525248G>A, NM_014969.6:c.2252C>T, NM_014969.5:c.2252C>T, XM_006710460.5:c.2258C>T, XM_006710460.4:c.2258C>T, XM_006710460.3:c.2258C>T, XM_006710460.2:c.2258C>T, XM_006710460.1:c.2258C>T, XM_011541027.4:c.2276C>T, XM_011541027.3:c.2276C>T, XM_011541027.2:c.2276C>T, XM_011541027.1:c.2276C>T, XM_011541028.4:c.2255C>T, XM_011541028.3:c.2255C>T, XM_011541028.2:c.2255C>T, XM_011541028.1:c.2255C>T, XM_017000697.3:c.2249C>T, XM_017000697.2:c.2249C>T, XM_017000697.1:c.2249C>T, XM_011541029.3:c.2279C>T, XM_011541029.2:c.2279C>T, XM_011541029.1:c.2279C>T, XM_017000696.3:c.2270C>T, XM_017000696.2:c.2270C>T, XM_017000696.1:c.2270C>T, NM_001142550.2:c.2273C>T, NM_001142550.1:c.2273C>T, NM_001142551.2:c.2249C>T, NM_001142551.1:c.2249C>T, XM_024454177.2:c.2279C>T, XM_024454177.1:c.2279C>T, XM_011541030.2:c.2258C>T, XM_011541030.1:c.2258C>T, XM_011541031.2:c.1979C>T, XM_011541031.1:c.1979C>T, XM_047449499.1:c.2279C>T, XM_047449501.1:c.2279C>T, XM_047449522.1:c.2252C>T, NP_055784.3:p.Ala751Val, XP_006710523.1:p.Ala753Val, XP_011539329.1:p.Ala759Val, XP_011539330.1:p.Ala752Val, XP_016856186.1:p.Ala750Val, XP_011539331.1:p.Ala760Val, XP_016856185.1:p.Ala757Val, NP_001136022.1:p.Ala758Val, NP_001136023.1:p.Ala750Val, XP_024309945.1:p.Ala760Val, XP_011539332.1:p.Ala753Val, XP_011539333.1:p.Ala660Val, XP_047305455.1:p.Ala760Val, XP_047305457.1:p.Ala760Val, XP_047305478.1:p.Ala751Val

                              15.

                              rs1471189356 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                1:108981796 (GRCh38)
                                1:109524418 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:108981795:T:A
                                Gene:
                                WDR47 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,stop_gained
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.108981796T>A, NC_000001.10:g.109524418T>A, NM_014969.6:c.2338A>T, NM_014969.5:c.2338A>T, XM_006710460.5:c.2344A>T, XM_006710460.4:c.2344A>T, XM_006710460.3:c.2344A>T, XM_006710460.2:c.2344A>T, XM_006710460.1:c.2344A>T, XM_011541027.4:c.2362A>T, XM_011541027.3:c.2362A>T, XM_011541027.2:c.2362A>T, XM_011541027.1:c.2362A>T, XM_011541028.4:c.2341A>T, XM_011541028.3:c.2341A>T, XM_011541028.2:c.2341A>T, XM_011541028.1:c.2341A>T, XM_017000697.3:c.2335A>T, XM_017000697.2:c.2335A>T, XM_017000697.1:c.2335A>T, XM_011541029.3:c.2365A>T, XM_011541029.2:c.2365A>T, XM_011541029.1:c.2365A>T, XM_017000696.3:c.2356A>T, XM_017000696.2:c.2356A>T, XM_017000696.1:c.2356A>T, NM_001142550.2:c.2359A>T, NM_001142550.1:c.2359A>T, NM_001142551.2:c.2335A>T, NM_001142551.1:c.2335A>T, XM_024454177.2:c.2365A>T, XM_024454177.1:c.2365A>T, XM_011541030.2:c.2344A>T, XM_011541030.1:c.2344A>T, XM_011541031.2:c.2065A>T, XM_011541031.1:c.2065A>T, XM_047449499.1:c.2365A>T, XM_047449501.1:c.2365A>T, XM_047449522.1:c.2338A>T, NP_055784.3:p.Arg780Ter, XP_006710523.1:p.Arg782Ter, XP_011539329.1:p.Arg788Ter, XP_011539330.1:p.Arg781Ter, XP_016856186.1:p.Arg779Ter, XP_011539331.1:p.Arg789Ter, XP_016856185.1:p.Arg786Ter, NP_001136022.1:p.Arg787Ter, NP_001136023.1:p.Arg779Ter, XP_024309945.1:p.Arg789Ter, XP_011539332.1:p.Arg782Ter, XP_011539333.1:p.Arg689Ter, XP_047305455.1:p.Arg789Ter, XP_047305457.1:p.Arg789Ter, XP_047305478.1:p.Arg780Ter

                                16.

                                rs1469591301 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  1:108981801 (GRCh38)
                                  1:109524423 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:108981800:G:C
                                  Gene:
                                  WDR47 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000001.11:g.108981801G>C, NC_000001.10:g.109524423G>C, NM_014969.6:c.2333C>G, NM_014969.5:c.2333C>G, XM_006710460.5:c.2339C>G, XM_006710460.4:c.2339C>G, XM_006710460.3:c.2339C>G, XM_006710460.2:c.2339C>G, XM_006710460.1:c.2339C>G, XM_011541027.4:c.2357C>G, XM_011541027.3:c.2357C>G, XM_011541027.2:c.2357C>G, XM_011541027.1:c.2357C>G, XM_011541028.4:c.2336C>G, XM_011541028.3:c.2336C>G, XM_011541028.2:c.2336C>G, XM_011541028.1:c.2336C>G, XM_017000697.3:c.2330C>G, XM_017000697.2:c.2330C>G, XM_017000697.1:c.2330C>G, XM_011541029.3:c.2360C>G, XM_011541029.2:c.2360C>G, XM_011541029.1:c.2360C>G, XM_017000696.3:c.2351C>G, XM_017000696.2:c.2351C>G, XM_017000696.1:c.2351C>G, NM_001142550.2:c.2354C>G, NM_001142550.1:c.2354C>G, NM_001142551.2:c.2330C>G, NM_001142551.1:c.2330C>G, XM_024454177.2:c.2360C>G, XM_024454177.1:c.2360C>G, XM_011541030.2:c.2339C>G, XM_011541030.1:c.2339C>G, XM_011541031.2:c.2060C>G, XM_011541031.1:c.2060C>G, XM_047449499.1:c.2360C>G, XM_047449501.1:c.2360C>G, XM_047449522.1:c.2333C>G, NP_055784.3:p.Thr778Ser, XP_006710523.1:p.Thr780Ser, XP_011539329.1:p.Thr786Ser, XP_011539330.1:p.Thr779Ser, XP_016856186.1:p.Thr777Ser, XP_011539331.1:p.Thr787Ser, XP_016856185.1:p.Thr784Ser, NP_001136022.1:p.Thr785Ser, NP_001136023.1:p.Thr777Ser, XP_024309945.1:p.Thr787Ser, XP_011539332.1:p.Thr780Ser, XP_011539333.1:p.Thr687Ser, XP_047305455.1:p.Thr787Ser, XP_047305457.1:p.Thr787Ser, XP_047305478.1:p.Thr778Ser

                                  17.

                                  rs1469071970 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    1:108981755 (GRCh38)
                                    1:109524377 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:108981754:A:C
                                    Gene:
                                    WDR47 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.108981755A>C, NC_000001.10:g.109524377A>C, NM_014969.6:c.2379T>G, NM_014969.5:c.2379T>G, XM_006710460.5:c.2385T>G, XM_006710460.4:c.2385T>G, XM_006710460.3:c.2385T>G, XM_006710460.2:c.2385T>G, XM_006710460.1:c.2385T>G, XM_011541027.4:c.2403T>G, XM_011541027.3:c.2403T>G, XM_011541027.2:c.2403T>G, XM_011541027.1:c.2403T>G, XM_011541028.4:c.2382T>G, XM_011541028.3:c.2382T>G, XM_011541028.2:c.2382T>G, XM_011541028.1:c.2382T>G, XM_017000697.3:c.2376T>G, XM_017000697.2:c.2376T>G, XM_017000697.1:c.2376T>G, XM_011541029.3:c.2406T>G, XM_011541029.2:c.2406T>G, XM_011541029.1:c.2406T>G, XM_017000696.3:c.2397T>G, XM_017000696.2:c.2397T>G, XM_017000696.1:c.2397T>G, NM_001142550.2:c.2400T>G, NM_001142550.1:c.2400T>G, NM_001142551.2:c.2376T>G, NM_001142551.1:c.2376T>G, XM_024454177.2:c.2406T>G, XM_024454177.1:c.2406T>G, XM_011541030.2:c.2385T>G, XM_011541030.1:c.2385T>G, XM_011541031.2:c.2106T>G, XM_011541031.1:c.2106T>G, XM_047449499.1:c.2406T>G, XM_047449501.1:c.2406T>G, XM_047449522.1:c.2379T>G

                                    18.

                                    rs1468423193 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      1:108983287 (GRCh38)
                                      1:109525909 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:108983286:G:C
                                      Gene:
                                      WDR47 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.108983287G>C, NC_000001.10:g.109525909G>C, NM_014969.6:c.2093C>G, NM_014969.5:c.2093C>G, XM_006710460.5:c.2093C>G, XM_006710460.4:c.2093C>G, XM_006710460.3:c.2093C>G, XM_006710460.2:c.2093C>G, XM_006710460.1:c.2093C>G, XM_011541027.4:c.2111C>G, XM_011541027.3:c.2111C>G, XM_011541027.2:c.2111C>G, XM_011541027.1:c.2111C>G, XM_011541028.4:c.2090C>G, XM_011541028.3:c.2090C>G, XM_011541028.2:c.2090C>G, XM_011541028.1:c.2090C>G, XM_017000697.3:c.2090C>G, XM_017000697.2:c.2090C>G, XM_017000697.1:c.2090C>G, XM_011541029.3:c.2114C>G, XM_011541029.2:c.2114C>G, XM_011541029.1:c.2114C>G, XM_017000696.3:c.2111C>G, XM_017000696.2:c.2111C>G, XM_017000696.1:c.2111C>G, NM_001142550.2:c.2114C>G, NM_001142550.1:c.2114C>G, NM_001142551.2:c.2090C>G, NM_001142551.1:c.2090C>G, XM_024454177.2:c.2114C>G, XM_024454177.1:c.2114C>G, XM_011541030.2:c.2093C>G, XM_011541030.1:c.2093C>G, XM_011541031.2:c.1814C>G, XM_011541031.1:c.1814C>G, XM_047449499.1:c.2114C>G, XM_047449501.1:c.2114C>G, XM_047449522.1:c.2093C>G, NP_055784.3:p.Ala698Gly, XP_006710523.1:p.Ala698Gly, XP_011539329.1:p.Ala704Gly, XP_011539330.1:p.Ala697Gly, XP_016856186.1:p.Ala697Gly, XP_011539331.1:p.Ala705Gly, XP_016856185.1:p.Ala704Gly, NP_001136022.1:p.Ala705Gly, NP_001136023.1:p.Ala697Gly, XP_024309945.1:p.Ala705Gly, XP_011539332.1:p.Ala698Gly, XP_011539333.1:p.Ala605Gly, XP_047305455.1:p.Ala705Gly, XP_047305457.1:p.Ala705Gly, XP_047305478.1:p.Ala698Gly

                                      19.

                                      rs1467135782 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        GC>- [Show Flanks]
                                        Chromosome:
                                        1:109011179 (GRCh38)
                                        1:109553801 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:109011178:GC:
                                        Gene:
                                        WDR47 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,frameshift_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.109011179_109011180del, NC_000001.10:g.109553801_109553802del, NM_014969.6:c.866_867del, NM_014969.5:c.866_867del, XM_006710460.5:c.866_867del, XM_006710460.4:c.866_867del, XM_006710460.3:c.866_867del, XM_006710460.2:c.866_867del, XM_006710460.1:c.866_867del, XM_011541027.4:c.887_888del, XM_011541027.3:c.887_888del, XM_011541027.2:c.887_888del, XM_011541027.1:c.887_888del, XM_011541028.4:c.866_867del, XM_011541028.3:c.866_867del, XM_011541028.2:c.866_867del, XM_011541028.1:c.866_867del, XM_017000697.3:c.866_867del, XM_017000697.2:c.866_867del, XM_017000697.1:c.866_867del, XM_011541029.3:c.887_888del, XM_011541029.2:c.887_888del, XM_011541029.1:c.887_888del, XM_017000696.3:c.887_888del, XM_017000696.2:c.887_888del, XM_017000696.1:c.887_888del, NM_001142550.2:c.887_888del, NM_001142550.1:c.887_888del, NM_001142551.2:c.866_867del, NM_001142551.1:c.866_867del, XM_024454177.2:c.887_888del, XM_024454177.1:c.887_888del, XM_011541030.2:c.866_867del, XM_011541030.1:c.866_867del, XM_011541031.2:c.587_588del, XM_011541031.1:c.587_588del, XM_047449499.1:c.887_888del, XM_047449501.1:c.887_888del, XM_047449522.1:c.866_867del, NP_055784.3:p.Ser289fs, XP_006710523.1:p.Ser289fs, XP_011539329.1:p.Ser296fs, XP_011539330.1:p.Ser289fs, XP_016856186.1:p.Ser289fs, XP_011539331.1:p.Ser296fs, XP_016856185.1:p.Ser296fs, NP_001136022.1:p.Ser296fs, NP_001136023.1:p.Ser289fs, XP_024309945.1:p.Ser296fs, XP_011539332.1:p.Ser289fs, XP_011539333.1:p.Ser196fs, XP_047305455.1:p.Ser296fs, XP_047305457.1:p.Ser296fs, XP_047305478.1:p.Ser289fs

                                        20.

                                        rs1467078979 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          1:109011275 (GRCh38)
                                          1:109553897 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:109011274:A:T
                                          Gene:
                                          WDR47 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.109011275A>T, NC_000001.10:g.109553897A>T, NM_014969.6:c.771T>A, NM_014969.5:c.771T>A, XM_006710460.5:c.771T>A, XM_006710460.4:c.771T>A, XM_006710460.3:c.771T>A, XM_006710460.2:c.771T>A, XM_006710460.1:c.771T>A, XM_011541027.4:c.792T>A, XM_011541027.3:c.792T>A, XM_011541027.2:c.792T>A, XM_011541027.1:c.792T>A, XM_011541028.4:c.771T>A, XM_011541028.3:c.771T>A, XM_011541028.2:c.771T>A, XM_011541028.1:c.771T>A, XM_017000697.3:c.771T>A, XM_017000697.2:c.771T>A, XM_017000697.1:c.771T>A, XM_011541029.3:c.792T>A, XM_011541029.2:c.792T>A, XM_011541029.1:c.792T>A, XM_017000696.3:c.792T>A, XM_017000696.2:c.792T>A, XM_017000696.1:c.792T>A, NM_001142550.2:c.792T>A, NM_001142550.1:c.792T>A, NM_001142551.2:c.771T>A, NM_001142551.1:c.771T>A, XM_024454177.2:c.792T>A, XM_024454177.1:c.792T>A, XM_011541030.2:c.771T>A, XM_011541030.1:c.771T>A, XM_011541031.2:c.492T>A, XM_011541031.1:c.492T>A, XM_047449499.1:c.792T>A, XM_047449501.1:c.792T>A, XM_047449522.1:c.771T>A

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